A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16961710



Internal ID41773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1583910..1583961hg38UCSC Ensembl
chr5:1584025..1584076hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402772
Supporting Variants
Samples
Known GenesSDHAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16961710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005932


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer